PTPN13

gene
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Also known as PTP1EPTP-BASPTPL1PTP-BL

Summary

PTPN13 (protein tyrosine phosphatase non-receptor type 13, HGNC:9646) is a protein-coding gene on chromosome 4q21.3, encoding Tyrosine-protein phosphatase non-receptor type 13 (Q12923). Tyrosine phosphatase which negatively regulates FAS-induced apoptosis and NGFR-mediated pro-apoptotic signaling.

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported.

Source: NCBI Gene 5783 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): bone marrow failure syndrome (Moderate, GenCC)
  • GWAS associations: 7
  • Clinical variants (ClinVar): 435 total
  • Druggable target: yes
  • Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 3 cancer types
  • MANE Select transcript: NM_080683

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9646
Approved symbolPTPN13
Nameprotein tyrosine phosphatase non-receptor type 13
Location4q21.3
Locus typegene with protein product
StatusApproved
AliasesPTP1E, PTP-BAS, PTPL1, PTP-BL
Ensembl geneENSG00000163629
Ensembl biotypeprotein_coding
OMIM600267
Entrez5783

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 22 protein_coding, 2 retained_intron

ENST00000316707, ENST00000411767, ENST00000427191, ENST00000436978, ENST00000502971, ENST00000507902, ENST00000508063, ENST00000511105, ENST00000511467, ENST00000860769, ENST00000860770, ENST00000860771, ENST00000860772, ENST00000940451, ENST00000940452, ENST00000940453, ENST00000940454, ENST00000940455, ENST00000940456, ENST00000940457, ENST00000940458, ENST00000940459, ENST00000953522, ENST00000953523

RefSeq mRNA: 4 — MANE Select: NM_080683 NM_006264, NM_080683, NM_080684, NM_080685

CCDS: CCDS47093, CCDS47094, CCDS47095, CCDS47096

Canonical transcript exons

ENST00000411767 — 48 exons

ExonStartEnd
ENSE000010767258676459386764724
ENSE000010767288676976986769983
ENSE000010767298680756086807897
ENSE000010767318680976986809984
ENSE000010767368678584886785936
ENSE000010767378677010186770199
ENSE000010767408677437386774531
ENSE000010767418676643286766517
ENSE000010767478680370986803857
ENSE000010767498677277886772958
ENSE000010767528677544286775652
ENSE000010767588679687486796929
ENSE000010767618673259286732766
ENSE000010767638676781786767976
ENSE000010767678677117186771535
ENSE000012166408679910186799204
ENSE000012167128674163486741816
ENSE000012168028677517186775342
ENSE000012169278673559486735746
ENSE000012169348673473786734875
ENSE000012169438673430386734456
ENSE000013256938676272786763190
ENSE000013648348663525286635371
ENSE000013648608667236586672543
ENSE000013665208669358786693674
ENSE000013682068675047086750887
ENSE000013699288670124186701801
ENSE000013716828673240086732474
ENSE000013728238671653086716625
ENSE000013775938671702486717117
ENSE000013821888672221286722434
ENSE000013875888668900586689190
ENSE000013881018668671086686775
ENSE000013909518674496686745128
ENSE000014039808680527986805369
ENSE000014066538675300986753065
ENSE000014078508675867886758785
ENSE000014154048678040286780472
ENSE000014168458659431586594789
ENSE000014174508681104686811108
ENSE000014204988675102786751124
ENSE000014217318675826086758349
ENSE000014283698678220186782262
ENSE000017971928678523186785368
ENSE000018047918678446586784558
ENSE000034606348676539586765488
ENSE000035596408675894286759073
ENSE000038458168681445686815161

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 97.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.8890 / max 1049.0498, expressed in 1481 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
4867015.85031442
486715.03861185

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
mucosa of paranasal sinusUBERON:000503097.09gold quality
urethraUBERON:000005796.72gold quality
penisUBERON:000098996.47gold quality
palpebral conjunctivaUBERON:000181296.05gold quality
pigmented layer of retinaUBERON:000178295.88gold quality
upper arm skinUBERON:000426395.86gold quality
renal medullaUBERON:000036295.64gold quality
trigeminal ganglionUBERON:000167595.33gold quality
endometrium epitheliumUBERON:000481194.77gold quality
gingival epitheliumUBERON:000194994.71gold quality
gingivaUBERON:000182894.59gold quality
pharyngeal mucosaUBERON:000035594.23gold quality
calcaneal tendonUBERON:000370194.03gold quality
dorsal root ganglionUBERON:000004493.73gold quality
cervix squamous epitheliumUBERON:000692293.38gold quality
upper leg skinUBERON:000426293.31gold quality
cervix epitheliumUBERON:000480193.28gold quality
epithelium of nasopharynxUBERON:000195193.11gold quality
corpus callosumUBERON:000233693.01gold quality
skin of hipUBERON:000155491.65gold quality
choroid plexus epitheliumUBERON:000391191.65gold quality
skin of abdomenUBERON:000141691.62gold quality
oral cavityUBERON:000016791.25gold quality
zone of skinUBERON:000001491.22gold quality
nasal cavity epitheliumUBERON:000538491.06gold quality
skin of legUBERON:000151190.97gold quality
tongue squamous epitheliumUBERON:000691990.78gold quality
mammalian vulvaUBERON:000099790.77gold quality
corpus epididymisUBERON:000435990.64gold quality
lower lobe of lungUBERON:000894990.33gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-CURD-119yes37.27
E-GEOD-130148yes12.76
E-CURD-112no2.99
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, CUX1, ETV6, EWSR1, FLI1, FOXC1, IRF8, NFKB1, NFKB, RELA, SPI1, STAT3, TP53

miRNA regulators (miRDB)

88 targeting PTPN13, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-3163100.0077.238605
HSA-MIR-656-3P100.0072.152788
HSA-MIR-5692A100.0074.406850
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-428299.9975.366408
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-548N99.9871.944170
HSA-MIR-1213699.9872.815713
HSA-MIR-314899.9775.066478
HSA-MIR-568899.9673.234504
HSA-MIR-495-3P99.9672.814197
HSA-MIR-9-3P99.9670.882068
HSA-MIR-101-3P99.9475.032230
HSA-MIR-144-3P99.9473.982698
HSA-MIR-335-3P99.9373.364958
HSA-MIR-7-1-3P99.9171.534384
HSA-MIR-7-2-3P99.9171.404394
HSA-MIR-129799.9173.413162
HSA-MIR-3121-3P99.8271.963630
HSA-MIR-430799.8270.453374

Literature-anchored findings (GeneRIF, showing 40)

  • Structure, dynamics and binding characteristics of the second PDZ domain of PTP-BL (PMID:11884147)
  • expression and apoptosis induction in peripheral blood cells from liver graft (PMID:11959286)
  • PDZ2 domain from cytosolic human phosphatase hPTP1E complexed with peptide, RA-GEF-2, reveals contribution of the beta2-beta3 loop to PDZ domain-ligand interactions (PMID:12095257)
  • PTPL1/FAP-1 has a key role in the apoptotic process in human breast cancer cells independent of Fas but associated with an early inhibition of the insulin receptor substrate-1/phosphatidylinositol 3-kinase pathway (PMID:12354757)
  • Shares a promoter region with the tightly linked gene encoding stress-activated protein kinase JNK3. (PMID:12436199)
  • FAP-1 has a role in binding to, and consequently inhibition of, Fas export to the cell surface (PMID:12724420)
  • specificity of interaction between the second PDZ domain of human protein tyrosine phosphatase1E (PDZ2) and a C-terminal peptide, ENEQVSAV, from the guanine nucleotide exchange factor RA-GEF-2 was investigated using FTIR spectroscopy and ESI-MS (PMID:12870871)
  • PTPL1 binds to tandem-PH-domain-containing protein (TAPP)-1. (PMID:14516276)
  • Data report the solution structure of the PDZ2 domain splicing variant of the protein tyrosine phosphatase PTP-Bas. (PMID:14596806)
  • X-ray crystallographic analysis of the PTPL1 catalytic domain (PMID:15611135)
  • We therefore report a novel transcriptional activation of a phosphatase involved in the oncogenesis of ESFT. (PMID:15782144)
  • FAP-1 expression is often up-regulated in metastatic tumors, with a causal connection withNF-kappaB-dependent transcriptional regulation of FAP-1 gene expression. (PMID:16306044)
  • FAP-1 could be inactivated during hepatocarcinogenesis, mainly attributed by allelic loss and promoter methylation. (PMID:16489062)
  • The PTPN13 protein has proapoptotic functions and can fuction as TSGs to suppress tumorigenesis. (PMID:16572203)
  • FAP-1 phosphatase activity could be responsible for NF-kappaB activation and resistance of SCCHN cells to Fas-mediated apoptosis. (PMID:16888780)
  • use the second PDZ domain (PDZ2) of protein tyrosine phosphatase (PTP1E) as a model to study the energetics of peptide binding to a class I PDZ domain. (PMID:17240990)
  • PTPN13/PTPL1 induces apoptosis through insulin receptor substrate-1 dephosphorylation (PMID:17638892)
  • cellular PTPN13 inhibits Her2 activity by dephosphorylating the signal domain of Her2 and plays a role in attenuating invasiveness and metastasis of Her2 overactive tumors. (PMID:17982484)
  • Frameshift mutation in the polyadenine tracts in both FLASH and PTPN13 genes is rare in colorectal carcinomas. Both FLASH and PTPN13 mutations in the polyadenine tracts may not have a crucial role in the pathogenesis of colorectal carcinomas. (PMID:18038312)
  • The interferon consensus sequence-binding protein (ICSBP/IRF8) represses PTPN13 gene transcription in differentiating myeloid cells (PMID:18195016)
  • erythrocyte CR1 ligation induces its clustering in complex with scaffolding protein FAP-1 (PMID:18684861)
  • PTPL1 expression level is an independent prognostic indicator of favorable outcome for patients with breast cancer (PMID:19004008)
  • PTPN13 SNPs were found to influence susceptibility to a wide spectrum of cancers. (PMID:19672627)
  • PTPN13 phosphatase activity has a physiologically significant role in regulating MAP kinase signaling (PMID:19734941)
  • polymorphisms in the PTPN13 coding region may have a role in susceptibility to squamous cell carcinoma of head and neck (PMID:19892796)
  • Transfection of FAP-1 siRNA into SW480 cells silenced the expression of FAP-1 and consequently abolished the inhibitory function of Fas/FasL-mediated apoptosis pathway, thus increasing the efficacy of chemotherapy for colon carcinoma with oxaliplatin. (PMID:20039457)
  • PTPL1 regulates breast cancer cell aggressiveness through direct inactivation of Src kinase. (PMID:20501847)
  • FAP-1 was demonstrated to be responsible for the reduced sensitivity to CD95-mediated apoptosis in cells with inhibited miR-200. (PMID:20620960)
  • X-ray crystal structures of PDZ2 in the absence and presence of RA-GEF2 ligand; very minor structural changes in PDZ2 accompany peptide binding (PMID:20839809)
  • REVIEW: the alterations in expression and the genetic and epigenetic arguments supporting an oncogenic or an anti-oncogenic impact of PTPL1 (PMID:21235435)
  • The Ret oncoprotein exerts opposing controls on Fap-1 and CD95, increasing Fap-1 expression and decreasing CD95 cell surface expression. (PMID:21741956)
  • interaction between Tel and Tel-PdgfRbeta decreases Tel/Icsbp/Hdac3 binding to the PTPN13 cis element, resulting in increased transcription. (PMID:22262849)
  • The PTPL1 is an important mediator of central cellular processes such as proliferation and invasion. (PMID:22274591)
  • Data show that EphrinB1, a PTPN13 substrate, interacts with ErbB2, and Src kinase mediates EphrinB1 phosphorylation and subsequent MAP Kinase signaling. (PMID:22279592)
  • CD95 signal transduction was not affected by FAP-1 expression in A818-6 monolayer cells; we found a polarisation-induced co-localisation of CD95 and FAP-1. (PMID:22364882)
  • Studied the peptide binding induced dynamical changes at the side-chain level throughout the second PDZ domain of PTP1e, identifying as such the collection of residues involved in long-range communication. (PMID:23209399)
  • Fap1-dependent inactivation of Gsk3beta and consequent stabilization of betacatenin in these cells. Consistent with this, Bcr-abl(+) cells exhibited a Fap1-dependent increase in betacatenin activity. (PMID:23519466)
  • The loss of PTPL1 and PKC-delta expression in poorly differentiated, more aggressive human prostate cancers indicate that their absence could be related to apoptosis resistance and tumor progression. (PMID:23559010)
  • PTPL1 dephosphorylates p85beta, promoting its binding to FBXL2 and degradation. (PMID:23604317)
  • Low PTPN13 expression is associated with invasion and metastasis of lung squamous cell carcinoma. (PMID:23906871)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioptpn13ENSDARG00000103699
mus_musculusPtpn13ENSMUSG00000034573
rattus_norvegicusPtpn13ENSRNOG00000002061

Paralogs (35): PTPRN (ENSG00000054356), PTPRU (ENSG00000060656), PTPN3 (ENSG00000070159), PTPN21 (ENSG00000070778), PTPN18 (ENSG00000072135), PTPN23 (ENSG00000076201), PTPRH (ENSG00000080031), PTPRC (ENSG00000081237), PTPN4 (ENSG00000088179), PTPRS (ENSG00000105426), PTPRZ1 (ENSG00000106278), PTPN5 (ENSG00000110786), PTPN6 (ENSG00000111679), PTPRB (ENSG00000127329), PTPN12 (ENSG00000127947), PTPRE (ENSG00000132334), PTPRA (ENSG00000132670), PTPN22 (ENSG00000134242), PTPRF (ENSG00000142949), PTPN7 (ENSG00000143851), PTPRG (ENSG00000144724), PTPRJ (ENSG00000149177), PTPRO (ENSG00000151490), PTPN14 (ENSG00000152104), PTPRK (ENSG00000152894), PTPRR (ENSG00000153233), PTPRD (ENSG00000153707), PTPRN2 (ENSG00000155093), PTPN9 (ENSG00000169410), PTPRM (ENSG00000173482), PTPN2 (ENSG00000175354), PTPN11 (ENSG00000179295), PTPRT (ENSG00000196090), PTPN1 (ENSG00000196396), PTPN20 (ENSG00000204179)

Protein

Protein identifiers

Tyrosine-protein phosphatase non-receptor type 13Q12923 (reviewed: Q12923)

Alternative names: Fas-associated protein-tyrosine phosphatase 1, PTP-BAS, Protein-tyrosine phosphatase 1E, Protein-tyrosine phosphatase PTPL1

All UniProt accessions (3): Q12923, D6R9M4, D6R9X4

UniProt curated annotations — full annotation on UniProt →

Function. Tyrosine phosphatase which negatively regulates FAS-induced apoptosis and NGFR-mediated pro-apoptotic signaling. May regulate phosphoinositide 3-kinase (PI3K) signaling through dephosphorylation of PIK3R2.

Subunit / interactions. Interacts (via the first PDZ domain) with PLEKHA1 and PLEKHA2. Interacts (via the second PDZ domain) with TNFRSF6 (Fas receptor) (via C-terminus). Interacts (via the second PDZ domain) with TRIP6 (via the third LIM domain and C-terminus). Interacts (via the third PDZ domain) with NGFR (via C-terminal SVP motif) and PKN2 (via C-terminus). Interacts (via the second or fourth PDZ domains) with PDLIM4 (via C-terminus only or via combined C-terminus and LIM domain, but not LIM domain only). Found in a complex with PDLIM4 and TRIP6. Interacts with PDLIM4; this interaction results in dephosphorylation of SRC ‘Tyr-419’ by this protein leading to its inactivation. Interacts with BRD7. Interacts with RAPGEF6. Interacts with ARHGAP29. Interacts with PIK3R2; dephosphorylates PIK3R2. Interacts with FBXL2. Interacts (via the FERM domain) with ENTR1. Found in a complex with ENTR1, PTPN13 and GIT1.

Subcellular location. Cytoplasm. Cytoskeleton. Nucleus. Cell projection. Lamellipodium.

Tissue specificity. Expressed in keratinocytes (at protein level). Present in most tissues with the exception of the liver and skeletal muscle. Most abundant in lung, kidney and fetal brain.

Miscellaneous. May be due to a competing donor splice site.

Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.

Isoforms (4)

UniProt IDNamesCanonical?
Q12923-11yes
Q12923-22
Q12923-33
Q12923-44

RefSeq proteins (4): NP_006255, NP_542414, NP_542415, NP_542416 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000242PTP_catDomain
IPR000299FERM_domainDomain
IPR000387Tyr_Pase_domDomain
IPR001478PDZDomain
IPR003595Tyr_Pase_catDomain
IPR011019KIND_domDomain
IPR011993PH-like_dom_sfHomologous_superfamily
IPR012153PTPN13Family
IPR014352FERM/acyl-CoA-bd_prot_sfHomologous_superfamily
IPR018979FERM_NDomain
IPR018980FERM_PH-like_CDomain
IPR019748FERM_centralDomain
IPR019749Band_41_domainDomain
IPR029021Prot-tyrosine_phosphatase-likeHomologous_superfamily
IPR029071Ubiquitin-like_domsfHomologous_superfamily
IPR035963FERM_2Homologous_superfamily
IPR036034PDZ_sfHomologous_superfamily
IPR052074NonRcpt_TyrProt_PhosphataseFamily

Pfam: PF00102, PF00373, PF00595, PF09379, PF09380, PF16599

Enzyme classification (BRENDA):

  • EC 3.1.3.48 — protein-tyrosine-phosphatase (BRENDA: 59 organisms, 501 substrates, 1326 inhibitors, 270 Km, 165 kcat entries)

Substrate kinetics (BRENDA)

70 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
4-NITROPHENYL PHOSPHATE0.0008–14884
6,8-DIFLUORO-4-METHYLUMBELLIFERYL PHOSPHATE0.0039–0.86227
P-NITROPHENYL PHOSPHATE0.0024–1020
DADEPYLIPQQG0.0003–0.112
PHOSPHOTYROSINE0.012–3011
LYSOZYME0.0003–0.0125
MYELIN BASIC PROTEIN0.0001–0.0225
ACETYL-DADEPY-NH20.0228–0.2194
ACETYL-DADEPYL-NH21.1–97.54
4,6,8-TRIMETHYL-2-OXO-2H-CHROMEN-7-YL DIHYDROGEN0.02–0.1563
SASASPYSASA0.53–2.33
1-NAPHTHYL PHOSPHATE1.19–1.882
3,6-FLUORESCEIN DIPHOSPHATE15–192
4-METHYLUMBELLIFERYL PHOSPHATE0.953–2.412
BOVINE SERUM ALBUMIN0.0001–0.00032

Catalyzed reactions (Rhea), 1 shown:

  • O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate (RHEA:10684)

UniProt features (123 total): strand 23, helix 16, compositionally biased region 12, sequence conflict 12, region of interest 11, modified residue 11, mutagenesis site 11, domain 8, sequence variant 7, turn 3, binding site 3, splice variant 3, chain 1, coiled-coil region 1, active site 1

Structure

Experimental structures (PDB)

12 structures.

PDBMethodResolution (Å)
3LNYX-RAY DIFFRACTION1.3
5GLJX-RAY DIFFRACTION1.6
3LNXX-RAY DIFFRACTION1.64
1WCHX-RAY DIFFRACTION1.85
7XTYX-RAY DIFFRACTION2.1
1D5GSOLUTION NMR
1Q7XSOLUTION NMR
2M0ZSOLUTION NMR
2M10SOLUTION NMR
3PDZSOLUTION NMR
7QCXSOLUTION NMR
7QCYSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q12923-F160.360.21

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 2408 (phosphocysteine intermediate)

Ligand- & substrate-binding residues (3): 2378; 2408–2414; 2452

Post-translational modifications (11): 240, 301, 302, 890, 897, 908, 911, 914, 1029, 1033, 1085

Mutagenesis-validated functional residues (11):

PositionPhenotype
2154no effect on substrate affinity.
2205no effect on substrate affinity.
2221reduces substrate affinity 2 fold.
2307reduces substrate affinity 7 fold.
2408loss of catalytic activity.
2444loss of catalytic activity.
2444reduces substrate affinity 7 fold.
2444strongly decreases catalytic activity.
2448reduces substrate affinity 2 fold.
2449loss of catalytic activity.
2474no effect on substrate affinity.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

IDPathway
R-HSA-1660499Synthesis of PIPs at the plasma membrane
R-HSA-9008059Interleukin-37 signaling
R-HSA-9696264RND3 GTPase cycle
R-HSA-9696270RND2 GTPase cycle
R-HSA-9696273RND1 GTPase cycle

MSigDB gene sets: 315 (showing top): GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_SYNAPSE_ASSEMBLY, GOZGIT_ESR1_TARGETS_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, MARTINEZ_RB1_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE

GO Biological Process (8): negative regulation of protein phosphorylation (GO:0001933), protein dephosphorylation (GO:0006470), peptidyl-tyrosine dephosphorylation (GO:0035335), regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051896), cellular response to toxic substance (GO:0097237), negative regulation of excitatory synapse assembly (GO:1904890), dephosphorylation (GO:0016311), regulatory ncRNA-mediated gene silencing (GO:0031047)

GO Molecular Function (5): protein tyrosine phosphatase activity (GO:0004725), phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), lamellipodium (GO:0030027), cell body (GO:0044297), extracellular exosome (GO:0070062), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
RHO GTPase cycle3
PI Metabolism1
Interleukin-1 family signaling1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
regulation of protein phosphorylation1
protein phosphorylation1
negative regulation of protein modification process1
negative regulation of phosphorylation1
dephosphorylation1
protein modification process1
protein dephosphorylation1
phosphatidylinositol 3-kinase/protein kinase B signal transduction1
regulation of intracellular signal transduction1
response to toxic substance1
cellular response to chemical stimulus1
negative regulation of synapse assembly1
excitatory synapse assembly1
regulation of excitatory synapse assembly1
phosphate-containing compound metabolic process1
negative regulation of gene expression1
phosphoprotein phosphatase activity1
phosphatidylinositol 3-kinase binding1
phosphatase activity1
catalytic activity, acting on a protein1
binding1
catalytic activity1
intracellular membrane-bounded organelle1
nuclear lumen1
intracellular anatomical structure1
intracellular membraneless organelle1
membrane1
cell periphery1
cell leading edge1
plasma membrane bounded cell projection1
extracellular vesicle1

Protein interactions and networks

STRING

1457 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PTPN13FASP25445923
PTPN13ARHGAP29Q52LW3861
PTPN13EFNB1P98172825
PTPN13RAPGEF6Q8TEU7817
PTPN13EFNB2P52799764
PTPN13EFNB3Q15768725
PTPN13CAV1Q03135713
PTPN13SRCP12931708
PTPN13APCP25054682
PTPN13PRYO14603682
PTPN13PTPRGP23470633
PTPN13ENTR1Q96C92630
PTPN13PTSQ03393621
PTPN13EPHB4P54760600
PTPN13FADDQ13158592
PTPN13PDCD10Q9BUL8592

IntAct

654 interactions, top by confidence:

ABTypeScore
PDCD10STK25psi-mi:“MI:0914”(association)0.980
YWHABPIK3C2Apsi-mi:“MI:0914”(association)0.800
RNF146TNKSpsi-mi:“MI:0914”(association)0.790
RAPGEF1CRKLpsi-mi:“MI:0914”(association)0.720
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
EPTPN13psi-mi:“MI:0915”(physical association)0.670
PTPN13Epsi-mi:“MI:0915”(physical association)0.670
EPTPN13psi-mi:“MI:0407”(direct interaction)0.670
YWHAGBLTP3Bpsi-mi:“MI:0914”(association)0.640
YWHAGBLTP3Bpsi-mi:“MI:2364”(proximity)0.640
APCPTPN13psi-mi:“MI:0407”(direct interaction)0.620
YWHAHPLEKHG3psi-mi:“MI:0914”(association)0.610
YWHABBLTP3Bpsi-mi:“MI:2364”(proximity)0.610
FASPTPN13psi-mi:“MI:0915”(physical association)0.590
EPTPN13psi-mi:“MI:0915”(physical association)0.590
SLC16A3CASKpsi-mi:“MI:0914”(association)0.590
YWHAEPIK3C2Apsi-mi:“MI:0914”(association)0.570
YWHAHBLTP3Bpsi-mi:“MI:0914”(association)0.570
YWHAZPIK3C2Apsi-mi:“MI:0914”(association)0.570
YWHAHBLTP3Bpsi-mi:“MI:2364”(proximity)0.570
CFTRPTPN13psi-mi:“MI:0407”(direct interaction)0.570

BioGRID (243): PTPN13 (Affinity Capture-MS), PTPN13 (Affinity Capture-MS), PTPN13 (Affinity Capture-MS), PTPN13 (Affinity Capture-MS), PTPN13 (Co-fractionation), PTPN13 (Proximity Label-MS), PTPN13 (Proximity Label-MS), PTPN13 (Affinity Capture-MS), PTPN13 (Two-hybrid), PLEKHA1 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), PTPN13 (Proximity Label-MS), PTPN13 (Affinity Capture-MS), PTPN13 (Affinity Capture-MS), KCTD3 (Affinity Capture-MS)

ESM2 similar proteins: A0A571BF63, A0A8M9QN10, A0JMA8, A1A535, A1A5P5, A1L1K1, A2AVJ5, A7YDW0, B3MJV4, B4MV81, O00443, O08576, O17237, Q0V9V7, Q12923, Q14D04, Q17QK1, Q1LYM3, Q2NKQ1, Q3UGY8, Q59EK9, Q5EB20, Q5JWR5, Q5PQS3, Q5R565, Q5RAY1, Q5TH69, Q5U245, Q5U3W3, Q5XHG1, Q61194, Q61QK6, Q64512, Q6ING4, Q6MZQ0, Q6ZUJ8, Q7Z3E5, Q803Q4, Q80U12, Q8BPQ7

Diamond homologs: A0A140LI67, A5PKA5, A7UA95, E1JIT7, O14910, O15018, O19132, O35274, O35867, O35889, O62666, O62674, O62675, O62676, O62677, O62678, O88951, O88952, P11434, P29475, P29476, P31016, P51140, P55196, P57105, P78352, Q07436, Q0P5F3, Q12923, Q14005, Q29498, Q2KIB6, Q32LM6, Q3T0C9, Q3UHD6, Q4KL35, Q5F425, Q5RAA5, Q62108, Q64512

SIGNOR signaling

14 interactions.

AEffectBMechanism
PTPN13down-regulatesINSRdephosphorylation
PTPN13down-regulatesPDCD10dephosphorylation
PTPN13“down-regulates activity”STK25dephosphorylation
PTPN13“up-regulates quantity by stabilization”NFKBIAdephosphorylation
PTPN13“down-regulates activity”PDCD10dephosphorylation
PTPN13“up-regulates activity”EFNB1dephosphorylation
PTPN13“down-regulates activity”ABL1dephosphorylation
PTPN13“down-regulates activity”IRS1dephosphorylation
PTPN13“down-regulates activity”ERBB2dephosphorylation
PTPN13“down-regulates activity”SRCdephosphorylation
PTPN13“down-regulates activity”TRIP6dephosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 188 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex842.3×1e-09
Activation of BAD and translocation to mitochondria742.0×2e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways737.0×4e-08
Activation of BH3-only proteins727.4×4e-07
RHO GTPases activate PKNs820.0×4e-07
EPHA-mediated growth cone collapse618.0×4e-05
Intrinsic Pathway for Apoptosis716.1×1e-05
FOXO-mediated transcription615.9×7e-05

GO biological processes:

GO termPartnersFoldFDR
ephrin receptor signaling pathway816.6×4e-05
regulation of GTPase activity515.4×3e-03
protein targeting613.2×1e-03
positive regulation of protein localization to plasma membrane711.5×1e-03
Ras protein signal transduction78.7×3e-03
positive regulation of neuron projection development97.4×1e-03
cell surface receptor protein tyrosine kinase signaling pathway77.3×5e-03
intracellular protein localization116.9×4e-04

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 3 cancer types — BLCA, PANCREAS, UCEC.

Clinical variants and AI predictions

ClinVar

435 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance348
Likely benign25
Benign6

Top pathogenic / likely-pathogenic (0)

SpliceAI

7392 predictions. Top by Δscore:

VariantEffectΔscore
4:86603859:G:GTdonor_gain1.0000
4:86603874:GCCAT:Gdonor_gain1.0000
4:86635372:G:Adonor_loss1.0000
4:86635373:T:Adonor_loss1.0000
4:86672336:T:Gacceptor_gain1.0000
4:86672342:A:AGacceptor_gain1.0000
4:86672342:ATTTT:Aacceptor_gain1.0000
4:86672346:T:TAacceptor_gain1.0000
4:86672347:G:Aacceptor_gain1.0000
4:86672352:A:AGacceptor_gain1.0000
4:86672356:A:AGacceptor_gain1.0000
4:86672357:C:Gacceptor_gain1.0000
4:86672358:A:AGacceptor_gain1.0000
4:86672359:A:Gacceptor_gain1.0000
4:86672539:AAAAG:Adonor_loss1.0000
4:86672540:AAAGG:Adonor_loss1.0000
4:86672541:AAG:Adonor_loss1.0000
4:86672542:AG:Adonor_loss1.0000
4:86672543:GG:Gdonor_loss1.0000
4:86672545:T:Adonor_loss1.0000
4:86686776:G:GGdonor_gain1.0000
4:86686781:T:Gdonor_gain1.0000
4:86688998:T:Gacceptor_gain1.0000
4:86689004:GCCT:Gacceptor_gain1.0000
4:86689118:G:GTdonor_gain1.0000
4:86693586:GACA:Gacceptor_gain1.0000
4:86693673:AGG:Adonor_loss1.0000
4:86693674:GGT:Gdonor_loss1.0000
4:86693675:G:GCdonor_loss1.0000
4:86693676:T:Gdonor_loss1.0000

AlphaMissense

16339 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:86758951:T:CL1144S1.000
4:86809811:T:AW2376R1.000
4:86809811:T:CW2376R1.000
4:86635338:A:CS28R0.999
4:86635340:T:AS28R0.999
4:86635340:T:GS28R0.999
4:86741787:T:AW820R0.999
4:86741787:T:CW820R0.999
4:86759038:T:CL1173P0.999
4:86764720:T:AV1382D0.999
4:86766441:T:AV1418D0.999
4:86769814:G:AG1512E0.999
4:86769817:T:CF1513S0.999
4:86807664:G:AG2284R0.999
4:86807664:G:CG2284R0.999
4:86809910:A:CS2409R0.999
4:86809912:T:AS2409R0.999
4:86809912:T:GS2409R0.999
4:86734362:T:AW640R0.998
4:86734362:T:CW640R0.998
4:86745015:T:CF846S0.998
4:86758681:T:CF1106S0.998
4:86758956:T:CS1146P0.998
4:86766438:G:CR1417P0.998
4:86766450:T:AV1421D0.998
4:86766488:G:CA1434P0.998
4:86767827:T:CL1447P0.998
4:86769813:G:AG1512R0.998
4:86769813:G:CG1512R0.998
4:86769816:T:CF1513L0.998

dbSNP variants (sampled 300 via entrez): RS1000009579 (4:86698101 T>A), RS1000011765 (4:86747804 C>A,T), RS1000057006 (4:86624765 A>T), RS1000070988 (4:86641017 G>A,T), RS1000072722 (4:86606120 G>A), RS1000076754 (4:86772436 C>G), RS10000891 (4:86747374 G>A), RS1000096642 (4:86755143 C>A), RS10001010 (4:86747525 G>A), RS1000116504 (4:86701542 C>T), RS1000122749 (4:86714324 T>G), RS1000144132 (4:86598337 G>A,T), RS1000148591 (4:86609009 A>G), RS1000162764 (4:86668337 A>G,T), RS1000164203 (4:86741535 T>C)

Disease associations

OMIM: gene MIM:600267 | disease phenotypes: MIM:156000, MIM:192500

GenCC curated gene-disease

DiseaseClassificationInheritance
bone marrow failure syndromeModerateAutosomal recessive

Mondo (3): Meniere disease (MONDO:0007972), familial long QT syndrome (MONDO:0019171), bone marrow failure syndrome (MONDO:0000159)

Orphanet (3): Romano-Ward syndrome (Orphanet:101016), Congenital long QT syndrome (Orphanet:768), NON RARE IN EUROPE: Menière disease (Orphanet:45360)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

StudyTraitp-value
GCST003476_4Eyebrow thickness2.000000e-06
GCST003861_1Kidney disease (end stage renal disease vs normoalbuminuria) in type 1 diabetes6.000000e-06
GCST003862_1Kidney disease (end stage renal disease vs non-end stage renal disease) in type 1 diabetes2.000000e-06
GCST007467_8Word spelling6.000000e-06
GCST010083_56Hemoglobin levels1.000000e-08
GCST011541_4Tinnitus2.000000e-07
GCST90000025_272Appendicular lean mass6.000000e-23

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0005301reading and spelling ability
EFO:0004509hemoglobin measurement
EFO:0004980appendicular lean mass

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008575Meniere DiseaseC09.218.568.217.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2976 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

17 potent at pChembl≥5 of 29 total, top 17 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
6.41IC50390nMCHEMBL2396718
6.22IC50600nMCHEMBL50878
5.89IC501300nMCHEMBL2316902
5.80IC501600nMCHEMBL2316907
5.72IC501900nMCHEMBL2316906
5.66IC502200nMCHEMBL3985776
5.55IC502800nMCHEMBL3918902
5.54IC502900nMCHEMBL2396719
5.37IC504300nMCHEMBL3979554
5.36IC504400nMCHEMBL51579
5.33IC504700nMCHEMBL417727
5.25IC505600nMCHEMBL3909342
5.19IC506500nMCHEMBL3900333
5.16IC507000nMCHEMBL51314
5.13IC507400nMCHEMBL3899171
5.00IC509900nMCHEMBL3908861
5.00IC509900nMCHEMBL50347

PubChem BioAssay actives

18 with measured affinity, of 88 total; 18 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
3-[2-(3-chlorophenyl)ethynyl]-6-hydroxy-2-[4-[2-oxo-2-(propylamino)ethoxy]phenyl]-1-benzofuran-5-carboxylic acid755774: Inhibition of recombinant FAP-1 (unknown origin) using pNPP as substrate by spectrophotometric analysisic500.3900uM
N-(9,10-dioxophenanthren-2-yl)-2-fluorobenzamide71463: Inhibitory concentration against FAP-1 pNPPic500.6000uM
6-hydroxy-2-phenyl-3-[2-[3-(trifluoromethyl)phenyl]ethynyl]-1-benzofuran-5-carboxylic acid725031: Inhibition of FAP1 (unknown origin) expressed in Escherichia coli using pNPP substrate after 5 mins by spectrophotometric analysisic501.3000uM
6-hydroxy-2-phenyl-3-[2-[4-(trifluoromethoxy)phenyl]ethynyl]-1-benzofuran-5-carboxylic acid725031: Inhibition of FAP1 (unknown origin) expressed in Escherichia coli using pNPP substrate after 5 mins by spectrophotometric analysisic501.6000uM
3-[2-(3,5-difluorophenyl)ethynyl]-6-hydroxy-2-phenyl-1-benzofuran-5-carboxylic acid725031: Inhibition of FAP1 (unknown origin) expressed in Escherichia coli using pNPP substrate after 5 mins by spectrophotometric analysisic501.9000uM
2-[6-(1,1,1,3,3,3-hexafluoro-2-hydroxypropan-2-yl)-7-hydroxynaphthalen-2-yl]oxy-1-phenothiazin-10-ylethanone1322861: Inhibition of recombinant FAP1 (unknown origin) using pNPP as substrate by spectrophotometric methodic502.2000uM
2-[6-(1,1,1,3,3,3-hexafluoro-2-hydroxypropan-2-yl)-7-hydroxynaphthalen-2-yl]oxy-N-(4-phenylphenyl)acetamide1322861: Inhibition of recombinant FAP1 (unknown origin) using pNPP as substrate by spectrophotometric methodic502.8000uM
3-[2-(3-chlorophenyl)ethynyl]-2-[4-[2-(cyclopropylamino)-2-oxoethoxy]phenyl]-6-hydroxy-1-benzofuran-5-carboxylic acid755774: Inhibition of recombinant FAP-1 (unknown origin) using pNPP as substrate by spectrophotometric analysisic502.9000uM
(5Z)-3-(3-chlorophenyl)-5-[(4-hydroxy-3-methoxy-5-nitrophenyl)methylidene]-2-sulfanylidene-1,3-thiazolidin-4-one1799621: PTP Assay from Article 10.1002/cbic.200600287: “Cellular inhibition of protein tyrosine phosphatase 1B by uncharged thioxothiazolidinone derivatives.”ic503.7000uM
N-[2-(2,4-dichlorophenyl)ethyl]-2-[6-(1,1,1,3,3,3-hexafluoro-2-hydroxypropan-2-yl)-7-hydroxynaphthalen-2-yl]oxyacetamide1322861: Inhibition of recombinant FAP1 (unknown origin) using pNPP as substrate by spectrophotometric methodic504.3000uM
methyl 4-[(9,10-dioxophenanthren-1-yl)amino]-4-oxobutanoate71463: Inhibitory concentration against FAP-1 pNPPic504.4000uM
2-aminophenanthrene-9,10-dione71466: Inhibitory concentration against FAP-1 using pNPP as substrateic504.7000uM
N-(9H-fluoren-9-yl)-2-[6-(1,1,1,3,3,3-hexafluoro-2-hydroxypropan-2-yl)-7-hydroxynaphthalen-2-yl]oxyacetamide1322861: Inhibition of recombinant FAP1 (unknown origin) using pNPP as substrate by spectrophotometric methodic505.6000uM
2-[6-(1,1,1,3,3,3-hexafluoro-2-hydroxypropan-2-yl)-7-hydroxynaphthalen-2-yl]oxy-N-(4-propan-2-ylphenyl)acetamide1322861: Inhibition of recombinant FAP1 (unknown origin) using pNPP as substrate by spectrophotometric methodic506.5000uM
N-(9,10-dioxophenanthren-2-yl)-2,2-dimethylpropanamide71463: Inhibitory concentration against FAP-1 pNPPic507.0000uM
N-(1-adamantyl)-2-[6-(1,1,1,3,3,3-hexafluoro-2-hydroxypropan-2-yl)-7-hydroxynaphthalen-2-yl]oxyacetamide1322861: Inhibition of recombinant FAP1 (unknown origin) using pNPP as substrate by spectrophotometric methodic507.4000uM
methyl 8-[(9,10-dioxophenanthren-2-yl)amino]-8-oxooctanoate71463: Inhibitory concentration against FAP-1 pNPPic509.9000uM
N-(1,3-benzothiazol-2-yl)-2-[6-(1,1,1,3,3,3-hexafluoro-2-hydroxypropan-2-yl)-7-hydroxynaphthalen-2-yl]oxyacetamide1322861: Inhibition of recombinant FAP1 (unknown origin) using pNPP as substrate by spectrophotometric methodic509.9000uM

CTD chemical–gene interactions

64 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression, increases expression6
trichostatin Aaffects cotreatment, decreases expression3
sodium arseniteincreases expression, decreases expression, affects cotreatment, increases abundance3
Estradiolaffects cotreatment, increases expression, decreases expression3
bisphenol Adecreases methylation, increases expression2
potassium chromate(VI)affects cotreatment, decreases expression, increases expression2
(+)-JQ1 compoundincreases expression2
Arsenicdecreases expression, increases abundance, affects cotreatment2
Benzo(a)pyrenedecreases expression, decreases methylation2
Tobacco Smoke Pollutiondecreases expression, increases expression2
Cadmium Chloridedecreases expression, increases abundance2
aristolochic acid Idecreases expression1
FR900359affects phosphorylation1
urushiolincreases expression1
methylmercuric chloridedecreases expression, increases expression1
triphenyl phosphateaffects expression1
glycidyl methacrylateincreases expression1
sodium arsenatedecreases expression, increases abundance1
terbufosincreases methylation1
arseniteaffects binding, decreases reaction1
doxifluridinedecreases response to substance1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
LY 117018increases expression1
cupric oxidedecreases expression1
1-UFT protocoldecreases response to substance1
S-(1,2-dichlorovinyl)cysteineaffects cotreatment, decreases expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
arsenic disulfidedecreases methylation1
glycidamidedecreases expression1
chromium hexavalent ionaffects expression1

ChEMBL screening assays

23 unique, capped per target: 22 binding, 1 admet

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1070017BindingInhibition of FAP1 expressed in Escherichia coli assessed as inhibition of p-nitrophenyl phosphate hydrolysis at pH 7 by spectrophotometrySalicylic acid based small molecule inhibitor for the oncogenic Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP2). — J Med Chem
CHEMBL4626300ADMETInhibition of FAP1 (unknown origin) expressed in Escherichia coli BL21 using p-nitrophenyl phosphate as substrate measured after 30 mins by UV-vis spectrophotometric methodHighly Potent and Selective N-Aryl Oxamic Acid-Based Inhibitors for Mycobacterium tuberculosis Protein Tyrosine Phosphatase B. — J Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B2CSAbcam HeLa PTPN13 KOCancer cell lineFemale
CVCL_D7YYUbigene A-549 PTPN13 KOCancer cell lineMale

Clinical trials (associated diseases)

128 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT01574313PHASE4COMPLETEDEffect of Stellate Ganglion Block on Meniere’s Disease
NCT02529475PHASE4TERMINATEDEvaluation of Inner Ear and Brain Structures With Contrast-enhanced MRI in Healthy Subjects (HYDROPS)
NCT04815187PHASE4ACTIVE_NOT_RECRUITINGRepurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere’s Disease
NCT02513940PHASE4COMPLETEDInfluence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883PHASE4COMPLETEDReducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100PHASE4UNKNOWNNovel Form of Acquired Long QT Syndrome
NCT04675788PHASE4COMPLETEDNovel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT00774527PHASE3COMPLETEDComparison of Cy-Atg Vs Cy-Flu-Atg for the Conditioning Therapy in Allo-HCT
NCT02393508PHASE3UNKNOWNThe Impact of Red Cell Age on Product Utilization in the Chronically Transfused Outpatient Population
NCT06940570PHASE3SUSPENDEDMethadone as an Alternative Treatment for Children Underdoing HSCT
NCT03664674PHASE3COMPLETEDPhase 3 Study of OTO-104 in Subjects With Unilateral Meniere’s Disease
NCT04677972PHASE3COMPLETEDSPI-1005 for the Treatment of Meniere’s Disease
NCT05851508PHASE3RECRUITINGThe Effecttiveness of Intratympanic Methylprednisolon Injections Compared to Placebo in the Treatment of Vertigo Attacks in Meniere’s Disease
NCT01050439PHASE2TERMINATEDUnrelated Donor Transplant for Malignant and Non-Malignant Disorders
NCT01596699PHASE2TERMINATEDPilot Trial of Clofarabine Added to Standard Busulfan and Fludarabine for Conditioning Prior to Allogeneic Hematopoietic Cell Transplantation
NCT01757145PHASE2UNKNOWNEltrombopag for Enhancing Platelet Engraftment in Adult Patients Undergoing Cord Blood Transplantation
NCT02224872PHASE2COMPLETEDTransplantation of Partially Mismatched Related or Matched Unrelated Bone Marrow for Patients With Refractory Severe Aplastic Anemia
NCT02277639PHASE2COMPLETEDReduced Intensity Conditioning Using CD3+/CD19+ Depletion for Non Malignant Transplantable Diseases
NCT02349906PHASE2COMPLETEDTreosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant Diseases
NCT02722668PHASE2COMPLETEDUCB Transplant for Hematological Diseases Using a Non Myeloablative Prep
NCT04356469PHASE2RECRUITINGTCR Alpha Beta T-cell Depleted Haploidentical HCT in the Treatment of Non-Malignant Hematological Disorders in Children
NCT04558736PHASE2RECRUITINGHaploidentical HCT for Severe Aplastic Anemia
NCT04965597PHASE2COMPLETEDTreosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT05420350PHASE2UNKNOWNLamotrigine and Bupropion for Meniere’s Disease
NCT06544434PHASE2RECRUITINGLaser Acupuncture for Meniere Disease
NCT01648205PHASE2COMPLETEDLong-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709PHASE2UNKNOWNLong QT Syndrome Screening in Newborns
NCT04581408PHASE2COMPLETEDMutation-specific Therapy for the Long QT Syndrome
NCT07585136PHASE1NOT_YET_RECRUITINGStem Cell Mobilization and Apheresis for Life-threatening Blood Disorders
NCT04674735PHASE1WITHDRAWNSafety of APSLXR in Patients Presenting Vertigo of Vestibular Origin or Meniere’s Disease
NCT00316459PHASE1COMPLETEDStudy Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003PHASE1COMPLETEDStudy of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532PHASE1COMPLETEDEffect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098PHASE1COMPLETEDPharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829PHASE1COMPLETEDPharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962PHASE1COMPLETEDPhase 1 Study of LQT-1213 in Healthy Adults
NCT01419704PHASE1/PHASE2WITHDRAWNPhase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01966367PHASE1/PHASE2ACTIVE_NOT_RECRUITINGCD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02055456PHASE1/PHASE2COMPLETEDNandrolone Decanoate in the Treatment of Telomeropathies
NCT02337595PHASE1/PHASE2COMPLETEDMemory T-cell Infusion to Improve Immunity After TCR-alpha/Beta Depleted Hematopoietic Stem Cell Transplantation